“How Should I Tell my Child?” Disclosing the Diagnosis of Sex Chromosome Aneuploidies
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To date, the disclosure of a sex chromosome aneuploidy (SCA) diagnosis to an affected individual has not been explored. This study aimed to assess the timing and content revealed to an affected child by his or her parent(s), resources accessed in preparation, parental feelings of preparedness, common parental concerns, and recommendations for disclosure approaches. Two online surveys were created: 1) for parents of a child with a diagnosis and 2) for individuals with a diagnosis. One-hundred thirty-nine parent surveys (XXY n = 68, XXX n = 21, XYY n = 9, other SCAs n = 41) and 67 individual surveys (XXY n = 58, XXX n = 9) were analyzed. Parents most frequently discussed the topics of learning disabilities (47 %) and genetics (45 %) with their child during the initial disclosure. A significantly greater proportion of parent respondents reported feeling prepared vs. unprepared for disclosure, regardless of their child’s diagnosis (z-test of proportions, all p’s < 0.001). Both prepared and unprepared parents most frequently accessed resources such as websites, support groups, and discussion with the child’s physician prior to disclosure, with unprepared parents accessing fewer resources (M = 2.0 ± 1.41) than prepared parents [M = 2. ± 1.56; t(101) =−2.02, p < 0.05]. Common parental concerns included making the conversation age-appropriate, discussing infertility, and possible impact on the child’s self-esteem. Both parent and individual respondents endorsed being honest with the child, disclosing the diagnosis early and before puberty, and discussing the diagnosis gradually over time. These results provide recommendations for parents, and suggest benefits from additional resources and supports to alleviate concerns when approaching diagnosis disclosure.
KeywordsDiagnosis Disclosure Sex Chromosome Aneuploidy Klinefelter Syndrome Trisomy X Genetic Counseling XXYY XYY XXY
This work was primarily completed by A. Dennis for scholarly project requirements of University of Colorado Genetic Counseling program. The topic for this project was inspired by a exceptional young man with “XYXY” syndrome. Senior author Nicole Tartaglia acknowledges support from NIH/NINDS 1K23NS070337, NIH/NCATS Colorado CTSI Grant Number UL1 TR001082, NIH/NCRR Colorado CTSI Grant Number UL1 RR025780, and University of Colorado IDDRC. Contents are the authors’ sole responsibility and do not necessarily represent official NIH views. The authors would also like to thank Richard Boada for his consultation on statistical analyses, Kali Messer, MS, CGC for survey and recruitment examples, Carol Walton, MS, CGC for her support, the organizations who participated in recruitment (including KS&A, Klinefeltersyndrome.org, KS Global Support Group, and regional support groups), and the study participants for sharing their time and experiences.
Conflict of Interest
A. Dennis, S. Howell, L. Cordeiro and N. Tartaglia declare that they have no conflict of interest.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
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